Linked Data
ClinVar Variation Id:
1122416
ClinVar RCV Id:
RCV001453081
dbSNP Id:
rs1597533984
MyVariant Identifiers:
chr17:g.7126998G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223679G>A , CM000679.2:g.7223679G>A | GRCh38 |
| NC_000017.10:g.7126998G>A , CM000679.1:g.7126998G>A | GRCh37 |
| NC_000017.9:g.7067722G>A | NCBI36 |
| NG_007975.1:g.8846G>A | |
| NG_008391.2:g.1372C>T | |
| NG_033038.1:g.15866C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1218G>A MANE Select | ENSP00000349297.5:p.Gln406= | |
| ENST00000322910.9:c.*1173G>A | ENSP00000325395.5:n.*1173G>A | |
| ENST00000350303.9:c.1152G>A | ENSP00000344152.5:p.Gln384= | |
| ENST00000356839.9:c.1218G>A | ENSP00000349297.5:p.Gln406= | |
| ENST00000542255.6:c.76G>A | ||
| ENST00000543245.6:c.1287G>A | ENSP00000438689.2:p.Gln429= | |
| ENST00000578579.2:n.389G>A | ||
| ENST00000578711.1:n.175G>A | ||
| ENST00000578824.5:n.634G>A | ||
| ENST00000579425.5:n.242G>A | ||
| ENST00000579546.1:c.55G>A | ||
| ENST00000583858.5:c.247G>A | ||
| ENST00000585203.6:n.426G>A | ||
| NM_000018.3:c.1218G>A | NP_000009.1:p.Gln406= | |
| NM_001033859.2:c.1152G>A | NP_001029031.1:p.Gln384= | |
| NM_001270447.1:c.1287G>A | NP_001257376.1:p.Gln429= | |
| NM_001270448.1:c.990G>A | NP_001257377.1:p.Gln330= | |
| XM_006721516.2:c.1218G>A | XP_006721579.2:p.Gln406= | |
| XM_011523829.1:c.1218G>A | XP_011522131.1:p.Gln406= | |
| XM_011523830.1:c.1218G>A | XP_011522132.1:p.Gln406= | |
| XR_934021.1:n.1325G>A | ||
| XR_934022.1:n.1325G>A | ||
| XR_934023.1:n.1325G>A | ||
| XM_006721516.3:c.1218G>A | XP_006721579.2:p.Gln406= | |
| XM_011523829.2:c.1218G>A | XP_011522131.1:p.Gln406= | |
| XM_011523830.2:c.1218G>A | XP_011522132.1:p.Gln406= | |
| XM_024450741.1:c.1218G>A | XP_024306509.1:p.Gln406= | |
| XR_934021.2:n.1277G>A | ||
| XR_934022.2:n.1277G>A | ||
| XR_934023.2:n.1277G>A | ||
| NM_000018.4:c.1218G>A MANE Select | NP_000009.1:p.Gln406= | |
| NM_001033859.3:c.1152G>A | NP_001029031.1:p.Gln384= | |
| NM_001270447.2:c.1287G>A | NP_001257376.1:p.Gln429= | |
| NM_001270448.2:c.990G>A | NP_001257377.1:p.Gln330= |